Variant report

Variant	rs76639595
Chromosome Location	chr11:65324773-65324774
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr11:65324702-65325295	A549	lung:	n/a	chr11:65324812-65324820
2	MXI1	chr11:65324370-65325987	IMR90	lung:	n/a	n/a
3	TCF12	chr11:65324431-65325101	A549	lung:	n/a	n/a
4	POLR2A	chr11:65324624-65325279	HepG2	liver:	n/a	n/a
5	HEY1	chr11:65324688-65325238	HepG2	liver:	n/a	n/a
6	STAT3	chr11:65324650-65324888	MCF10A-Er-Src	breast:	n/a	chr11:65324819-65324827
7	HEY1	chr11:65324572-65325331	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:65324701-65325290	HepG2	liver:	n/a	n/a
9	HNF4A	chr11:65324673-65325301	HepG2	liver:	n/a	chr11:65324893-65324901 chr11:65324989-65325003 chr11:65324887-65324900 chr11:65324887-65324902 chr11:65324887-65324902 chr11:65324887-65324900 chr11:65324889-65324901 chr11:65324886-65324901 chr11:65324887-65324902
10	STAT3	chr11:65324650-65324892	MCF10A-Er-Src	breast:	n/a	chr11:65324819-65324827
11	POLR2A	chr11:65324520-65325276	HepG2	liver:	n/a	n/a
12	MAX	chr11:65324384-65325434	A549	lung:	n/a	n/a
13	POLR2A	chr11:65324574-65324935	HCT-116	colon:	n/a	n/a
14	HNF4G	chr11:65324651-65325205	HepG2	liver:	n/a	chr11:65324893-65324901 chr11:65324989-65325003 chr11:65324887-65324900 chr11:65324887-65324902 chr11:65324885-65324900 chr11:65324887-65324902 chr11:65324887-65324900 chr11:65324889-65324901 chr11:65324887-65324902
15	HNF4A	chr11:65324732-65325208	HepG2	liver:	n/a	chr11:65324893-65324901 chr11:65324989-65325003 chr11:65324887-65324900 chr11:65324887-65324902 chr11:65324887-65324902 chr11:65324887-65324900 chr11:65324889-65324901 chr11:65324886-65324901 chr11:65324887-65324902
16	POLR2A	chr11:65324407-65326431	HepG2	liver:	n/a	n/a
17	HDAC2	chr11:65324735-65325155	HepG2	liver:	n/a	chr11:65324893-65324901
18	NFIC	chr11:65324713-65325242	HepG2	liver:	n/a	n/a
19	HNF4A	chr11:65324696-65325142	HepG2	liver:	n/a	chr11:65324893-65324901 chr11:65324989-65325003 chr11:65324887-65324900 chr11:65324887-65324902 chr11:65324887-65324902 chr11:65324887-65324900 chr11:65324889-65324901 chr11:65324886-65324901 chr11:65324887-65324902
20	POLR2A	chr11:65324767-65325068	HepG2	liver:	n/a	n/a
21	SP1	chr11:65324589-65325149	HepG2	liver:	n/a	chr11:65325068-65325082
22	MYBL2	chr11:65324561-65325034	HepG2	liver:	n/a	n/a
23	HNF4G	chr11:65324633-65325160	HepG2	liver:	n/a	chr11:65324893-65324901 chr11:65324989-65325003 chr11:65324887-65324900 chr11:65324887-65324902 chr11:65324885-65324900 chr11:65324887-65324902 chr11:65324887-65324900 chr11:65324889-65324901 chr11:65324887-65324902
24	MYBL2	chr11:65324622-65325060	HepG2	liver:	n/a	n/a
25	POLR2A	chr11:65324641-65324918	HUVEC	blood vessel:	n/a	n/a
26	MAZ	chr11:65323932-65326942	IMR90	lung:	n/a	chr11:65326583-65326593 chr11:65325980-65325990
27	CEBPD	chr11:65324725-65325585	HepG2	liver:	n/a	n/a
28	MAZ	chr11:65324663-65325240	HepG2	liver:	n/a	n/a
29	BCL3	chr11:65324474-65325254	A549	lung:	n/a	n/a
30	YY1	chr11:65324691-65325155	HepG2	liver:	n/a	n/a
31	ZBTB7A	chr11:65324735-65325087	HepG2	liver:	n/a	n/a
32	SIN3AK20	chr11:65324755-65324956	HepG2	liver:	n/a	n/a
33	POLR2A	chr11:65324444-65324950	HCT-116	colon:	n/a	n/a
34	TBP	chr11:65324767-65325040	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65324768-65324818	PFSK-1	brain:	n/a
2	chr11:65324768-65324818	NH-A	brain:	n/a
3	chr11:65324768-65324818	SK-N-SH	brain:	n/a
4	chr11:65324768-65324818	HRE	kidney:	n/a
5	chr11:65324768-65324818	Jurkat	blood:	n/a
6	chr11:65324768-65324818	PrEC	prostate:	n/a
7	chr11:65324768-65324818	U87	brain:	n/a
8	chr11:65324768-65324818	NT2-D1	testis:	n/a
9	chr11:65324768-65324818	HEEpiC	esophagus:	n/a
10	chr11:65324768-65324818	HUVEC	blood vessel:	n/a
11	chr11:65324768-65324818	RPTEC	kidney:	n/a
12	chr11:65324768-65324818	H1-hESC	embryonic stem cell:	embryo
13	chr11:65324768-65324818	AG04449	skin:	fetal
14	chr11:65324768-65324818	IMR90	lung:	fetal
15	chr11:65324768-65324818	HCT-116	colon:	n/a
16	chr11:65324768-65324818	Hepatocyte	liver:	n/a
17	chr11:65324768-65324818	HAEpiC	amniotic membrane:	n/a
18	chr11:65324768-65324818	SK-N-SH_RA	brain:	n/a
19	chr11:65324768-65324818	NHBE	bronchial:	n/a
20	chr11:65324768-65324818	HCF	heart:	n/a
21	chr11:65324768-65324818	HPAEpiC	pulmonary alveolar:	n/a
22	chr11:65324768-65324818	HEK293	kidney:	embryo
23	chr11:65324768-65324818	PANC-1	pancreas:	n/a
24	chr11:65324768-65324818	AG09309	skin:	n/a
25	chr11:65324768-65324818	ECC-1	luminal epithelium:	n/a
26	chr11:65324768-65324818	HRCEpiC	kidney:	n/a
27	chr11:65324768-65324818	MCF10A-Er-Src	breast:	n/a
28	chr11:65324768-65324818	AoSMC	blood vessel:	n/a
29	chr11:65324768-65324818	HCM	heart:	n/a
30	chr11:65324768-65324818	GM12892	blood:	n/a
31	chr11:65324768-65324818	Hela-S3	cervix:	n/a
32	chr11:65324768-65324818	HCPEpiC	choroid plexus:	n/a
33	chr11:65324768-65324818	HNPCEpiC	eye:	n/a
34	chr11:65324768-65324818	CMK	blood:	n/a
35	chr11:65324768-65324818	SAEC	small airway:	n/a
36	chr11:65324768-65324818	SKMC	muscle:	n/a
37	chr11:65324768-65324818	AG10803	skin:	n/a
38	chr11:65324768-65324818	GM12878	blood:	n/a
39	chr11:65324768-65324818	HIPEpiC	eye:	n/a
40	chr11:65324768-65324818	GM19239	blood:	n/a
41	chr11:65324768-65324818	SK-N-MC	brain:	n/a
42	chr11:65324768-65324818	HRPEpiC	eye:	n/a
43	chr11:65324768-65324818	AG09319	gingival:	n/a
44	chr11:65324768-65324818	NB4	blood:	n/a
45	chr11:65324768-65324818	K562	blood:	n/a
46	chr11:65324768-65324818	HMEC	breast:	n/a
47	chr11:65324768-65324818	AG04450	lung:	fetal
48	chr11:65324768-65324818	Caco-2	colon:	n/a
49	chr11:65324768-65324818	BE2_C	brain:	n/a
50	chr11:65324768-65324818	A549	lung:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65322830..65325559-chr11:65385179..65389892,4	K562	blood:
2	chr11:65186486..65188182-chr11:65323386..65325229,2	MCF-7	breast:
3	chr11:65188903..65194388-chr11:65323256..65328284,10	MCF-7	breast:
4	chr11:65152331..65154319-chr11:65322563..65324840,2	K562	blood:
5	chr11:65265516..65268533-chr11:65323156..65327547,5	MCF-7	breast:
6	chr11:65324365..65326095-chr11:65402996..65405366,2	K562	blood:
7	chr11:65189010..65195293-chr11:65321323..65327708,15	K562	blood:
8	chr11:65269130..65271131-chr11:65323511..65325144,2	MCF-7	breast:
9	chr11:65264952..65268870-chr11:65322730..65327860,7	K562	blood:
10	chr11:65264479..65268560-chr11:65318003..65330456,22	MCF-7	breast:
11	chr11:65123264..65125729-chr11:65322609..65324877,2	K562	blood:
12	chr11:65184371..65196984-chr11:65316952..65328208,29	K562	blood:

Variant related genes	Relation type
LTBP3	TF binding region
LTBP3	CpG island
ENSG00000245532	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000126391	Chromatin interaction
ENSG00000266041	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000251562	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
2	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
3	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases
4	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
5	nsv541068	chr11:65142779-65331136	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	953 gene(s)	inside rSNPs	diseases
6	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
7	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	972 gene(s)	inside rSNPs	diseases
8	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
9	nsv897719	chr11:65157094-65335705	Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
10	nsv541073	chr11:65171202-65331136	Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
11	nsv541074	chr11:65171202-65368787	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	961 gene(s)	inside rSNPs	diseases
12	nsv541075	chr11:65210592-65331136	Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	620 gene(s)	inside rSNPs	diseases
13	nsv541076	chr11:65210592-65397058	Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	645 gene(s)	inside rSNPs	diseases
14	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases
15	nsv897721	chr11:65278461-65422853	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
16	nsv897722	chr11:65278461-65436888	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
17	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
18	nsv897730	chr11:65302893-65376484	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
19	esv3358908	chr11:65324401-65327349	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65318600-65325800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:65320000-65325000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:65320800-65324800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:65321200-65324800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr11:65321200-65325400	Enhancers	Fetal Brain Male	brain
6	chr11:65321200-65326200	Enhancers	Spleen	Spleen
7	chr11:65321400-65324800	Enhancers	Esophagus	oesophagus
8	chr11:65321600-65324800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:65321800-65324800	Enhancers	K562	blood
10	chr11:65321800-65325000	Enhancers	Stomach Mucosa	stomach
11	chr11:65322200-65325000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:65322400-65324800	Enhancers	Pancreas	Pancrea
13	chr11:65322600-65324800	Enhancers	Left Ventricle	heart
14	chr11:65322600-65325000	Flanking Active TSS	Hela-S3	cervix
15	chr11:65322800-65324800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:65322800-65324800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:65322800-65324800	Enhancers	NHEK	skin
18	chr11:65323000-65325000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr11:65323000-65325200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:65323200-65325000	Flanking Active TSS	HepG2	liver
21	chr11:65323600-65324800	Weak transcription	Psoas Muscle	Psoas
22	chr11:65323800-65324800	Weak transcription	Gastric	stomach
23	chr11:65324000-65324800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr11:65324000-65324800	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr11:65324000-65324800	Flanking Active TSS	A549	lung
26	chr11:65324000-65324800	Flanking Active TSS	NH-A	brain
27	chr11:65324000-65325000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr11:65324000-65325000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr11:65324000-65325000	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr11:65324000-65325000	Flanking Active TSS	HSMM	muscle
31	chr11:65324000-65325000	Flanking Active TSS	HSMMtube	muscle
32	chr11:65324000-65325200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr11:65324000-65325200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr11:65324000-65325200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:65324000-65325200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:65324000-65325200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:65324000-65325200	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr11:65324000-65325200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:65324000-65325200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr11:65324000-65325200	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr11:65324000-65325200	Flanking Active TSS	HMEC	breast
42	chr11:65324200-65324800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:65324200-65324800	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr11:65324200-65325000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr11:65324200-65325000	Flanking Active TSS	Fetal Brain Female	brain
46	chr11:65324200-65325000	Weak transcription	Lung	lung
47	chr11:65324200-65325000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr11:65324200-65325200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:65324200-65325200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr11:65324200-65325200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links